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GWAS Study

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.

Wolking S, Schulz H, Nies AT et al.

32308125 PubMed ID
GWAS Study Type
886 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

WS
Wolking S
SH
Schulz H
NA
Nies AT
MM
McCormack M
SE
Schaeffeler E
AP
Auce P
AA
Avbersek A
BF
Becker F
KK
Klein KM
KM
Krenn M
MR
Møller RS
NM
Nikanorova M
WS
Weckhuysen S
CE
Consortium E
CG
Cavalleri GL
DN
Delanty N
DC
Depondt C
JM
Johnson MR
KB
Koeleman BP
KW
Kunz WS
MA
Marson AG
SJ
Sander JW
SG
Sills GJ
SP
Striano P
ZF
Zara F
ZF
Zimprich F
WY
Weber YG
KR
Krause R
SS
Sisodiya S
SM
Schwab M
ST
Sander T
LH
Lerche H
Chapter II

Abstract

Summary of the research findings

Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). Materials & methods: We conducted a genome-wide association study (GWAS) of 3.3 million autosomal SNPs in 893 European subjects with GGE - responsive or nonresponsive to lamotrigine, levetiracetam and valproic acid. Results: Our GWAS of AED response revealed suggestive evidence for association at 29 genomic loci (p <10-5) but no significant association reflecting its limited power. The suggestive associations highlight candidate genes that are implicated in epileptogenesis and neurodevelopment. Conclusion: This first GWAS of AED response in GGE provides a comprehensive reference of SNP associations for hypothesis-driven candidate gene analyses in upcoming pharmacogenetic studies.

608 European ancestry responders, 278 European ancestry non-responders

Chapter III

Study Statistics

Key metrics and study information

886
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Belgium, Denmark, Germany, Italy, Netherlands, Republic of Ireland, U.K., Austria
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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